Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

A.A.H.J. Thiadens; A.I. Den Hollander; S. Roosing; S.B. Nabuurs; R.C. Zekveld-Vroon; R.W.J. Collin; E. De Baere; R.K. Koenekoop; M.J. Van Schooneveld; T.M. Strom; J.J.C. Van Lith-Verhoeven; A.J. Lotery; N. Van Moll-Ramirez; B.P. Leroy; L.I. Van den Born; C.B. Hoyng; F.P.M. Cremers; C.C. Klaver

doi:10.1016/j.ajhg.2009.06.016

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

A.A.H.J. Thiadens, A.I. Den Hollander, S. Roosing, S.B. Nabuurs, R.C. Zekveld-Vroon, R.W.J. Collin, E. De Baere, R.K. Koenekoop, M.J. Van Schooneveld, T.M. Strom, J.J.C. Van Lith-Verhoeven, A.J. Lotery, N. Van Moll-Ramirez, B.P. Leroy, L.I. Van den Born, C.B. Hoyng, F.P.M. Cremers, C.C. Klaver

Netherlands Institute for Neuroscience (NIN)

Research output: Contribution to journal/periodical › Article › Scientific › peer-review

Original language	English
Pages (from-to)	240-247
Journal	American Journal of Human Genetics
Volume	85
DOIs	https://doi.org/10.1016/j.ajhg.2009.06.016
Publication status	Published - 2009

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10.1016/j.ajhg.2009.06.016

Cite this

Thiadens, A. A. H. J., Den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., Van Schooneveld, M. J., Strom, T. M., Van Lith-Verhoeven, J. J. C., Lotery, A. J., Van Moll-Ramirez, N., Leroy, B. P., Van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., & Klaver, C. C. (2009). Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. American Journal of Human Genetics, 85, 240-247. https://doi.org/10.1016/j.ajhg.2009.06.016

Thiadens, A.A.H.J. ; Den Hollander, A.I. ; Roosing, S. ; Nabuurs, S.B. ; Zekveld-Vroon, R.C. ; Collin, R.W.J. ; De Baere, E. ; Koenekoop, R.K. ; Van Schooneveld, M.J. ; Strom, T.M. ; Van Lith-Verhoeven, J.J.C. ; Lotery, A.J. ; Van Moll-Ramirez, N. ; Leroy, B.P. ; Van den Born, L.I. ; Hoyng, C.B. ; Cremers, F.P.M. ; Klaver, C.C. / Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. In: American Journal of Human Genetics. 2009 ; Vol. 85. pp. 240-247.

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title = "Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.",

author = "A.A.H.J. Thiadens and {Den Hollander}, A.I. and S. Roosing and S.B. Nabuurs and R.C. Zekveld-Vroon and R.W.J. Collin and {De Baere}, E. and R.K. Koenekoop and {Van Schooneveld}, M.J. and T.M. Strom and {Van Lith-Verhoeven}, J.J.C. and A.J. Lotery and {Van Moll-Ramirez}, N. and B.P. Leroy and {Van den Born}, L.I. and C.B. Hoyng and F.P.M. Cremers and C.C. Klaver",

note = "Reporting year: 2009",

year = "2009",

doi = "10.1016/j.ajhg.2009.06.016",

language = "English",

volume = "85",

pages = "240--247",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

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Thiadens, AAHJ, Den Hollander, AI, Roosing, S, Nabuurs, SB, Zekveld-Vroon, RC, Collin, RWJ, De Baere, E, Koenekoop, RK, Van Schooneveld, MJ, Strom, TM, Van Lith-Verhoeven, JJC, Lotery, AJ, Van Moll-Ramirez, N, Leroy, BP, Van den Born, LI, Hoyng, CB, Cremers, FPM & Klaver, CC 2009, 'Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.', American Journal of Human Genetics, vol. 85, pp. 240-247. https://doi.org/10.1016/j.ajhg.2009.06.016

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. / Thiadens, A.A.H.J.; Den Hollander, A.I.; Roosing, S.; Nabuurs, S.B.; Zekveld-Vroon, R.C.; Collin, R.W.J.; De Baere, E.; Koenekoop, R.K.; Van Schooneveld, M.J.; Strom, T.M.; Van Lith-Verhoeven, J.J.C.; Lotery, A.J.; Van Moll-Ramirez, N.; Leroy, B.P.; Van den Born, L.I.; Hoyng, C.B.; Cremers, F.P.M.; Klaver, C.C.

In: American Journal of Human Genetics, Vol. 85, 2009, p. 240-247.

Research output: Contribution to journal/periodical › Article › Scientific › peer-review

TY - JOUR

T1 - Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

AU - Thiadens, A.A.H.J.

AU - Den Hollander, A.I.

AU - Roosing, S.

AU - Nabuurs, S.B.

AU - Zekveld-Vroon, R.C.

AU - Collin, R.W.J.

AU - De Baere, E.

AU - Koenekoop, R.K.

AU - Van Schooneveld, M.J.

AU - Strom, T.M.

AU - Van Lith-Verhoeven, J.J.C.

AU - Lotery, A.J.

AU - Van Moll-Ramirez, N.

AU - Leroy, B.P.

AU - Van den Born, L.I.

AU - Hoyng, C.B.

AU - Cremers, F.P.M.

AU - Klaver, C.C.

N1 - Reporting year: 2009

PY - 2009

Y1 - 2009

U2 - 10.1016/j.ajhg.2009.06.016

DO - 10.1016/j.ajhg.2009.06.016

M3 - Article

VL - 85

SP - 240

EP - 247

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

ER -